Canonical Allele Identifier: CA2320962558
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527883C= , CM000681.2:g.7527883C= GRCh38
NC_000019.9:g.7592769C= , CM000681.1:g.7592769C= GRCh37
NC_000019.8:g.7498769C= NCBI36
NG_015806.1:g.10274C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.700C= MANE Select ENSP00000264079.5:p.His234=
ENST00000264079.10:c.700C= ENSP00000264079.5:p.His234=
ENST00000394321.9:n.1015C=
ENST00000601003.1:c.591C= ENSP00000469074.1:p.Ser197=
NM_020533.2:c.700C= NP_065394.1:p.His234=
NM_020533.3:c.700C= MANE Select NP_065394.1:p.His234=
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